Canonical Allele Identifier: CA2767419575
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90755170_90755175del , CM000667.2:g.90755170_90755175del GRCh38
NC_000005.9:g.90050987_90050992del , CM000667.1:g.90050987_90050992del GRCh37
NC_000005.8:g.90086743_90086748del NCBI36
NG_007083.1:g.201371_201376del
NG_007083.2:g.230827_230832del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.11565_11570del MANE Select ENSP00000384582.2:p.Glu3855_Ser3857delinsAsp
ENST00000425867.3:c.696_701del ENSP00000392618.3:p.Glu232_Ser234delinsAsp
ENST00000639431.1:c.265+78961_265+78966del ENSP00000491057.1:n.265+78961_265+78966del
ENST00000640374.1:n.4709_4714del
ENST00000640464.1:n.1984_1989del
ENST00000405460.6:c.11565_11570del ENSP00000384582.2:p.Glu3855_Ser3857delinsAsp
ENST00000509621.1:c.4262_4267del
NM_032119.3:c.11565_11570del NP_115495.3:p.Glu3855_Ser3857delinsAsp
NR_003149.1:n.11578_11583del
XM_011543675.1:c.11562_11567del XP_011541977.1:p.Glu3854_Ser3856delinsAsp
XM_011543676.1:c.11484_11489del XP_011541978.1:p.Glu3828_Ser3830delinsAsp
XM_011543677.1:c.8868_8873del XP_011541979.1:p.Glu2956_Ser2958delinsAsp
XM_011543678.1:c.11565_11570del XP_011541980.1:p.Glu3855_Ser3857delinsAsp
NM_032119.4:c.11565_11570del MANE Select NP_115495.3:p.Glu3855_Ser3857delinsAsp
XM_017009963.2:c.11586_11591del XP_016865452.1:p.Glu3862_Ser3864delinsAsp
XM_017009964.2:c.11583_11588del XP_016865453.1:p.Glu3861_Ser3863delinsAsp
XM_017009965.1:c.11583_11588del XP_016865454.1:p.Glu3861_Ser3863delinsAsp
XM_017009966.2:c.11505_11510del XP_016865455.1:p.Glu3835_Ser3837delinsAsp
XM_017009967.1:c.11490_11495del XP_016865456.1:p.Glu3830_Ser3832delinsAsp
XM_017009968.2:c.11586_11591del XP_016865457.1:p.Glu3862_Ser3864delinsAsp
XM_017009969.2:c.11586_11591del XP_016865458.1:p.Glu3862_Ser3864delinsAsp
XM_017009970.2:c.11586_11591del XP_016865459.1:p.Glu3862_Ser3864delinsAsp
XM_017009971.2:c.11586_11591del XP_016865460.1:p.Glu3862_Ser3864delinsAsp
XM_017009972.1:c.4704_4709del XP_016865461.1:p.Glu1568_Ser1570delinsAsp
XM_017009973.1:c.4683_4688del XP_016865462.1:p.Glu1561_Ser1563delinsAsp
NR_003149.2:n.11581_11586del